Canonical Allele Identifier: CA515264864

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160667G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722239G>T , CM000684.2:g.50722239G>T	GRCh38
NC_000022.10:g.51160667G>T , CM000684.1:g.51160667G>T	GRCh37
NC_000022.9:g.49507533G>T	NCBI36
NG_008607.2:g.52885G>T
NG_070230.1:g.58023G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.4007G>T	ENSP00000489147.2:p.Arg1336Ile
ENST00000414786.7:n.4591G>T
ENST00000445220.7:c.3059G>T	ENSP00000489407.2:p.Arg1020Ile
ENST00000664402.2:c.2549G>T	ENSP00000499475.1:p.Arg850Ile
ENST00000673971.2:c.*3005G>T	ENSP00000501192.1:n.*3005G>T
ENST00000445220.6:c.3059G>T	ENSP00000489407.2:p.Arg1020Ile
ENST00000262795.6:c.4007G>T	ENSP00000489147.2:p.Arg1336Ile
ENST00000664402.1:c.2549G>T	ENSP00000499475.1:p.Arg850Ile
ENST00000673971.1:c.*3005G>T	ENSP00000501192.1:n.*3005G>T
ENST00000262795.5:c.4403G>T	ENSP00000489147.1:p.Arg1468Ile
ENST00000414786.6:n.4591G>T
ENST00000445220.5:c.4385G>T	ENSP00000489407.1:p.Arg1462Ile